Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)

Thiamine Metabolism Dysfunction Syndrome 2, also known as biotin-responsive basal ganglia disease, is related to basal ganglia disease and thiamine-responsive megaloblastic anemia syndrome, and has symptoms including confusion, seizure and ataxia. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (Solute Carrier Family 19 Member 3), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include brain and caudate nucleus, and related phenotypes are abnormal pyramidal sign and dysphagia